Canonical Allele Identifier: CA130098
Gene: SLCO2A1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.133973750C>A
GRCh37 chr3:g.133692594C>A
gnomAD v2:
3:133692594 C / A
gnomAD v4:
chr3-133973750-C-A
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar Allele:
45811
ClinVar RCV:
RCV000030782
RCV001527661
RCV002513277
ClinVar Variation:
37171
dbSNP:
387907297
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133973750C>A , CM000665.2:g.133973750C>A GRCh38
NC_000003.11:g.133692594C>A , CM000665.1:g.133692594C>A GRCh37
NC_000003.10:g.135175284C>A NCBI36
NG_031964.2:g.83435G>T
NG_031964.3:g.83435G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310926.11:c.310G>T MANE Select ENSP00000311291.4:p.Gly104Ter
ENST00000310926.8:c.310G>T ENSP00000311291.4:p.Gly104Ter
ENST00000462770.5:n.433G>T
ENST00000464676.5:n.572G>T
ENST00000478651.1:n.433G>T
ENST00000481359.3:c.310G>T ENSP00000420028.3:p.Gly104Ter
ENST00000493729.5:c.310G>T ENSP00000418893.1:p.Gly104Ter
NM_005630.2:c.310G>T NP_005621.2:p.Gly104Ter
XM_011513090.1:c.310G>T XP_011511392.1:p.Gly104Ter
XM_017007077.1:c.-195G>T XP_016862566.1:n.-195G>T
XM_024453721.1:c.310G>T XP_024309489.1:p.Gly104Ter
NM_005630.3:c.310G>T MANE Select NP_005621.2:p.Gly104Ter
Search 100 bp 5'
Search 100 bp 3'